Paralogue Annotation for CACNA1C residue 1070

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1070
Reference Amino Acid: K - Lysine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1070

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1385VMyoclonic epilepsy of infancyMedium4 23195492

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in CACNA1C.



CACNA1CQFMFACIGVQLFKGKLYTCSDSSKQTEAEC>K<GNYITYKDGEVDHP-IIQ--PRSWENSKFD1097
CACNA1AMFIFAVVAVQLFKGKFFHCTDESKEFEKDC>R<GKYLLYEKNEVK----AR--DREWKKYEFH1442
CACNA1BMFIFAVIAVQLFKGKFFYCTDESKELERDC>R<GQYLDYEKEEVE----AQ--PRQWKKYDFH1348
CACNA1DQFMFACIGVQLFKGKFYRCTDEAKSNPEEC>R<GLFILYKDGDVDSP-VVR--ERIWQNSDFN1103
CACNA1EMFIFAVIAVQLFKGKFFYCTDSSKDTEKEC>I<GNYVDHEKNKME----VK--GREWKRHEFH1354
CACNA1FQFMFACIGVQLFKGKFYTCTDEAKHTPQEC>K<GSFLVYPDGDVSRP-LVR--ERLWVNSDFN1068
CACNA1GFIIFGILGVQLFKGKFFVCQGED------->-<-TRNITNKSDCA----EA--SYRWVRHKYN1468
CACNA1HFIIFGILGVQLFKGKFYYCEGPD------->-<-TRNISTKAQCR----AA--HYRWVRRKYN1486
CACNA1IFIIFGILGVQLFKGKFYHCLGVD------->-<-TRNITNRSDCM----AA--NYRWVHHKYN1362
CACNA1SQFMFACIGVQLFKGKFFRCTDLSKMTEEEC>R<GYYYVYKDGDPMQI-ELR--HREWVHSDFH996
SCN10AWLIFSIMGVNLFAGKFWRCINYTDGEF-SL>V<PLSIVNNKSDCKIQNSTGS--FFWVNVKVN1349
SCN11AWLVFCILGVYFFSGKFGKCINGTDSVI--->-<NYTIITNKSQCESGN------FSWINQKVN1239
SCN1AWLIFSIMGVNLFAGKFYHCINTTTGDR--->F<DIEDVNNHTDCLKLIERNET-ARWKNVKVN1414
SCN2AWLIFSIMGVNLFAGKFYHCINYTTGEM--->F<DVSVVNNYSECKALIESNQT-ARWKNVKVN1404
SCN3AWLIFSIMGVNLFAGKFYHCVNMTTGNM--->F<DISDVNNLSDCQALGK--Q--ARWKNVKVN1399
SCN4AWLIFSIMGVNLFAGKFYYCINTTTSER--->F<DISEVNNKSECESLMHTGQ--VRWLNVKVN1226
SCN5AWLIFSIMGVNLFAGKFGRCINQTEGDL-P->L<NYTIVNNKSQCESLNLTGE--LYWTKVKVN1401
SCN7AWLIFSIMGVDLFAGRFYECIDPTSGER--->F<PSSEVMNKSRCESLLFNES--MLWENAKMN1124
SCN8AWLIFSIMGVNLFAGKYHYCFNETSEIR--->F<EIEDVNNKTECEKLMEGNNTEIRWKNVKIN1395
SCN9AWLIFSIMGVNLFAGKFYECINTTDGSR--->F<PASQVPNRSECFALMNVSQN-VRWKNLKVN1377
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1070 for CACNA1C.